肝糖原贮积症肾脏并发症的临床观察  

Renal complications of hepatic glycogen storage disease

作　　者：魏珉[1] 邱正庆[1] 宋红梅[1] 赵时敏[1] 施惠平[1] 

机构地区：[1]中国医学科学院中国协和医科大学 北京协和医院儿科,北京100730

出　　处：《中华肾脏病杂志》2005年第11期669-671,共3页Chinese Journal of Nephrology

摘　　要：目的观察儿童期肝糖原贮积症(GSD)的肾脏并发症。方法回顾性分析1993年1月-2004年1月北京协和医院108例病历完整的GSD患儿的肾脏损害的临床特点、治疗和预后。年龄≤10岁73例,10岁以上35例。病例随诊时间1～10年,随诊期间给予生玉米淀粉为主的综合治疗。结果临床诊断GSD-Ⅰa型54例(23例进行了基因诊断);Ⅲ型29例(5例进行了基因诊断);分型不明的25例。16例(20.8%)尿蛋白增多,发现蛋白尿时平均年龄11.3(3～21)岁,2例15岁女孩24 h尿蛋白定量已达1.3 g和3.8 g,同时伴有肾功能轻度受损。51/72例(70.8%)尿B_2-MG增多,为175～10 623 mg/L。5例患儿(4.6%)出现肾结石或高尿钙症,发生时年龄17.8(11～21)岁;4/5例肾绞痛伴肉眼血尿,1/5例无症状;随诊发现镜下血尿及大量草酸钙结晶,24 h尿钙456.6 mg,B型超声证实双肾多发结石。10/17例Ccr降低(48～76.9 ml/min);2/17例Ccr升高(156.9～1819 ml/min)。5/91例BUN升高(7.4～9.3 mol/L);1/91例Scr升高(106.1 μmol/L)。结论GSD的肾脏合并定在儿童期已可以见到,主要表现为尿蛋白增多(白蛋白及肾小管蛋白)和肾石症,直至肾功能不全,症状随年龄增大而逐渐出现。应加强GSD患儿肾脏并发症的随诊。Objective To study renal involvement in hepatic glycogen storage disease （GSD） in childhood. Methods One hundred and eight patients aged less than 21 years old with type Ⅰ a GSD （54 cases）, type Ⅲ （29 cases） and uncertain type hepatic GSD （25 cases）. Urine analysis, urine albumin, urine protein of 24 h, urine 132-MG, BUN, creatinine, Ccr were evaluated. Results Of 108 patients with hepatic GSD, 16 patients （20.8%） had proteinuria proven by urine albumin or urine protein of 24 h, their ages first found proteinuria were 8-15 years. Two 15-year-old patients had proteinuria over 1.0 g/24 h. Among 72 patients, urine I3z-MG of 51 cases （70.8%） increased （175-10 623 mg/L）, and the mean urine β2-MG of type Ⅰ a GSD was much higher than that of type Ⅲ GSD, 4138.2 and 1790.1 mg/L respectively. Of 91 patients, 10 had renal insufficiency, 1/ 10 （15-year-old girl） had heavy proteinuria （3.5 g/24 h）, elevated BUN （9.3 mmol/L） and Scr （1061 p.mol/L）. Five elder patients （11-21 years old） had hematuria with renal colic caused by renal calculus. Conclusions Persistent protenuria, increased urine 132-MG, decreased Ccr, and renal stones are common complications of hepatic GSD in childhood. Renal function should be thoroughly evaluated during follow-up.

关 键 词：肝糖原 蛋白尿 肾结石 肾功能衰竭 肝糖原贮积症 

分 类 号：R725.8[医药卫生—儿科] R726.9[医药卫生—临床医学]